CREBBP c.4231G>A ;(p.G1411R)

Variant ID: 16-3789628-C-T

NM_004380.2(CREBBP):c.4231G>A;(p.G1411R)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Plasma Concentrations and Cancer-Associated Mutations in Cell-Free Circulating DNA of Treatment-Naive Follicular Lymphoma for Improved Non-Invasive Diagnosis and Prognosis.

Frontiers In Oncology
Hatipoğlu, Tevfik T; Esmeray Sönmez, Esra E; Hu, Xiaozhou X; Yuan, Hongling H; Danyeli, Ayça Erşen AE; Şeyhanlı, Ahmet A; Önal-Süzek, Tuğba T; Zhang, Weiwei W; Akman, Burcu B; Olgun, Aybüke A; Özkal, Sermin S; Alacacıoğlu, İnci İ; Özcan, Mehmet Ali MA; You, Hua H; Küçük, Can C
Publication Date: 2022

Variant appearance in text: CREBBP: G1411R
PubMed Link: 35795062
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 2
View BVdb publication page



Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age.

Nature Communications
Burkhardt, Birgit B; Michgehl, Ulf U; Rohde, Jonas J; Erdmann, Tabea T; Berning, Philipp P; Reutter, Katrin K; Rohde, Marius M; Borkhardt, Arndt A; Burmeister, Thomas T; Dave, Sandeep S; Tzankov, Alexandar A; Dugas, Martin M; Sandmann, Sarah S; Fend, Falko F; Finger, Jasmin J; Mueller, Stephanie S; Gökbuget, Nicola N; Haferlach, Torsten T; Kern, Wolfgang W; Hartmann, Wolfgang W; Klapper, Wolfram W; Oschlies, Ilske I; Richter, Julia J; Kontny, Udo U; Lutz, Mathias M; Maecker-Kolhoff, Britta B; Ott, German G; Rosenwald, Andreas A; Siebert, Reiner R; von Stackelberg, Arend A; Strahm, Brigitte B; Woessmann, Wilhelm W; Zimmermann, Martin M; Zapukhlyak, Myroslav M; Grau, Michael M; Lenz, Georg G
Publication Date: 2022-07-06

Variant appearance in text: CREBBP: 4133+772G>A
PubMed Link: 35794096
Variant Present in the following documents:
  • 41467_2022_31355_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



An alternative CYB5A transcript is expressed in aneuploid ALL and enriched in relapse.

Bmc Genomic Data
Bartsch, Lorenz L; Schroeder, Michael P MP; Hänzelmann, Sonja S; Bastian, Lorenz L; Lázaro-Navarro, Juan J; Schlee, Cornelia C; Tanchez, Jutta Ortiz JO; Schulze, Veronika V; Isaakidis, Konstandina K; Rieger, Michael A MA; Gökbuget, Nicola N; Eckert, Cornelia C; Serve, Hubert H; Horstmann, Martin M; Schrappe, Martin M; Brüggemann, Monika M; Baldus, Claudia D CD; Neumann, Martin M
Publication Date: 2022-04-18

Variant appearance in text: CREBBP: G1411R
PubMed Link: 35436854
Variant Present in the following documents:
  • 12863_2022_1041_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.

Blood Advances
Crouch, Simon S; Painter, Daniel D; Barrans, Sharon L SL; Roman, Eve E; Beer, Philip A PA; Cooke, Susanna L SL; Glover, Paul P; Van Hoppe, Suzan J L SJL; Webster, Nichola N; Lacy, Stuart E SE; Ruiz, Camilo C; Campbell, Peter J PJ; Hodson, Daniel J DJ; Patmore, Russell R; Burton, Cathy C; Smith, Alexandra A; Tooze, Reuben M RM
Publication Date: 2022-11-08

Variant appearance in text: CREBBP: G1411R
PubMed Link: 35363872
Variant Present in the following documents:
  • BLOODA_ADV-2021-005284-mmc1.xlsx, sheet 2
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: CREBBP: 4231G>A; G1411R
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Baseline SUVmax is related to tumor cell proliferation and patient outcome in follicular lymphoma.

Haematologica
Rossi, Cédric C; Tosolini, Marie M; Gravelle, Pauline P; Pericart, Sarah S; Kanoun, Salim S; Evrard, Solene S; Gilhodes, Julia J; Franchini, Don-Marc DM; Amara, Nadia N; Syrykh, Charlotte C; Bories, Pierre P; Oberic, Lucie L; Ysebaert, Loïc L; Martin, Laurent L; Ramla, Selim S; Robert, Philippine P; Tabouret-Viaud, Claire C; Casasnovas, René-Olivier RO; Fournié, Jean-Jacques JJ; Bezombes, Christine C; Laurent, Camille C
Publication Date: 2022-01-01

Variant appearance in text: CREBBP: 4231G>A; Gly1411Arg
PubMed Link: 33327711
Variant Present in the following documents:
  • 2020_263194_ROSSI_TAB3_SUPPL.xls, sheet 1
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: CREBBP: Gly1411Arg
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Integrated analysis of relapsed B-cell precursor Acute Lymphoblastic Leukemia identifies subtype-specific cytokine and metabolic signatures.

Scientific Reports
Schroeder, Michael P MP; Bastian, Lorenz L; Eckert, Cornelia C; Gökbuget, Nicola N; James, Alva Rani AR; Tanchez, Jutta Ortiz JO; Schlee, Cornelia C; Isaakidis, Konstandina K; Häupl, Björn B; Baum, Katharina K; Migueles Lozano, Oscar Arturo OA; Kouidri, Khouloud K; Pan, Kuan-Ting KT; Urlaub, Henning H; Schwartz, Stefan S; Burmeister, Thomas T; von Stackelberg, Arend A; Hoelzer, Dieter D; Pfeiffer, Heike H; Rieger, Michael A MA; Göllner, Stefanie S; Oellerich, Thomas T; Horstman, Martin M; Schrappe, Martin M; Wolf, Jana J; Kirschner-Schwabe, Renate R; Brüggemann, Monika M; Müller-Tidow, Carsten C; Serve, Hubert H; Neumann, Martin M; Baldus, Claudia D CD
Publication Date: 2019-03-12

Variant appearance in text: CREBBP: G1411R
PubMed Link: 30862934
Variant Present in the following documents:
  • 41598_2019_40786_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Frequent structural variations involving programmed death ligands in Epstein-Barr virus-associated lymphomas.

Leukemia
Kataoka, Keisuke K; Miyoshi, Hiroaki H; Sakata, Seiji S; Dobashi, Akito A; Couronné, Lucile L; Kogure, Yasunori Y; Sato, Yasuharu Y; Nishida, Kenji K; Gion, Yuka Y; Shiraishi, Yuichi Y; Tanaka, Hiroko H; Chiba, Kenichi K; Watatani, Yosaku Y; Kakiuchi, Nobuyuki N; Shiozawa, Yusuke Y; Yoshizato, Tetsuichi T; Yoshida, Kenichi K; Makishima, Hideki H; Sanada, Masashi M; Onozawa, Masahiro M; Teshima, Takanori T; Yoshiki, Yumiko Y; Ishida, Tadao T; Suzuki, Kenshi K; Shimada, Kazuyuki K; Tomita, Akihiro A; Kato, Motohiro M; Ota, Yasunori Y; Izutsu, Koji K; Demachi-Okamura, Ayako A; Akatsuka, Yoshiki Y; Miyano, Satoru S; Yoshino, Tadashi T; Gaulard, Philippe P; Hermine, Olivier O; Takeuchi, Kengo K; Ohshima, Koichi K; Ogawa, Seishi S
Publication Date: 2019-07

Variant appearance in text: CREBBP: G1411R
PubMed Link: 30683910
Variant Present in the following documents:
  • 41375_2019_380_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports
Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; Brünner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L
Publication Date: 2017-11-10

Variant appearance in text: CREBBP: 4231G>A; G1411R
PubMed Link: 29127303
Variant Present in the following documents:
  • 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.

Leukemia
Vesely, C C; Frech, C C; Eckert, C C; Cario, G G; Mecklenbräuker, A A; Zur Stadt, U U; Nebral, K K; Kraler, F F; Fischer, S S; Attarbaschi, A A; Schuster, M M; Bock, C C; Cavé, H H; von Stackelberg, A A; Schrappe, M M; Horstmann, M A MA; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R
Publication Date: 2017-07

Variant appearance in text: CREBBP: G1411R
PubMed Link: 27899802
Variant Present in the following documents:
  • leu2016365x3.xlsx, sheet 1
View BVdb publication page



KRAS and CREBBP mutations: a relapse-linked malicious liaison in childhood high hyperdiploid acute lymphoblastic leukemia.

Leukemia
Malinowska-Ozdowy, K K; Frech, C C; Schönegger, A A; Eckert, C C; Cazzaniga, G G; Stanulla, M M; zur Stadt, U U; Mecklenbräuker, A A; Schuster, M M; Kneidinger, D D; von Stackelberg, A A; Locatelli, F F; Schrappe, M M; Horstmann, M A MA; Attarbaschi, A A; Bock, C C; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R
Publication Date: 2015-08

Variant appearance in text: CREBBP: G1411R
PubMed Link: 25917266
Variant Present in the following documents:
  • leu2015107x2.xls, sheet 1
  • leu2015107x5.xls, sheet 1
View BVdb publication page



Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer.

Nature Genetics
Peifer, Martin M; Fernández-Cuesta, Lynnette L; Sos, Martin L ML; George, Julie J; Seidel, Danila D; Kasper, Lawryn H LH; Plenker, Dennis D; Leenders, Frauke F; Sun, Ruping R; Zander, Thomas T; Menon, Roopika R; Koker, Mirjam M; Dahmen, Ilona I; Müller, Christian C; Di Cerbo, Vincenzo V; Schildhaus, Hans-Ulrich HU; Altmüller, Janine J; Baessmann, Ingelore I; Becker, Christian C; de Wilde, Bram B; Vandesompele, Jo J; Böhm, Diana D; Ansén, Sascha S; Gabler, Franziska F; Wilkening, Ines I; Heynck, Stefanie S; Heuckmann, Johannes M JM; Lu, Xin X; Carter, Scott L SL; Cibulskis, Kristian K; Banerji, Shantanu S; Getz, Gad G; Park, Kwon-Sik KS; Rauh, Daniel D; Grütter, Christian C; Fischer, Matthias M; Pasqualucci, Laura L; Wright, Gavin G; Wainer, Zoe Z; Russell, Prudence P; Petersen, Iver I; Chen, Yuan Y; Stoelben, Erich E; Ludwig, Corinna C; Schnabel, Philipp P; Hoffmann, Hans H; Muley, Thomas T; Brockmann, Michael M; Engel-Riedel, Walburga W; Muscarella, Lucia A LA; Fazio, Vito M VM; Groen, Harry H; Timens, Wim W; Sietsma, Hannie H; Thunnissen, Erik E; Smit, Egbert E; Heideman, Daniëlle A M DA; Snijders, Peter J F PJ; Cappuzzo, Federico F; Ligorio, Claudia C; Damiani, Stefania S; Field, John J; Solberg, Steinar S; Brustugun, Odd Terje OT; Lund-Iversen, Marius M; Sänger, Jörg J; Clement, Joachim H JH; Soltermann, Alex A; Moch, Holger H; Weder, Walter W; Solomon, Benjamin B; Soria, Jean-Charles JC; Validire, Pierre P; Besse, Benjamin B; Brambilla, Elisabeth E; Brambilla, Christian C; Lantuejoul, Sylvie S; Lorimier, Philippe P; Schneider, Peter M PM; Hallek, Michael M; Pao, William W; Meyerson, Matthew M; Sage, Julien J; Shendure, Jay J; Schneider, Robert R; Büttner, Reinhard R; Wolf, Jürgen J; Nürnberg, Peter P; Perner, Sven S; Heukamp, Lukas C LC; Brindle, Paul K PK; Haas, Stefan S; Thomas, Roman K RK
Publication Date: 2012-10

Variant appearance in text: N/A
PubMed Link: 22941188
Variant Present in the following documents:
View BVdb publication page



CREBBP HAT domain mutations prevail in relapse cases of high hyperdiploid childhood acute lymphoblastic leukemia.

Leukemia
Inthal, A A; Zeitlhofer, P P; Zeginigg, M M; Morak, M M; Grausenburger, R R; Fronkova, E E; Fahrner, B B; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R
Publication Date: 2012-08

Variant appearance in text: CREBBP: 4231G>A; G1411R
PubMed Link: 22388726
Variant Present in the following documents:
  • Main text
View BVdb publication page